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Measures

Number of red blood cells in the blood

Identifies

Red blood cell disorders

Measures: Number of red blood cells in the blood

Identifies: Red blood cell disorders

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What is the maximum days the report can be obtained for the test

The report for the Pulmonary Alveolar Microlithiasis (PAM) Gene Analysis Test can be obtained within a maximum of 21 days.

What are the prerequisites for the test Pulmonary Alveolar Microlithiasis (PAM) Gene Analysis Test

  • Written informed consent is required from the patient or legal guardian.
  • Specimen required: Whole blood in EDTA (lavender top) tube.
  • Minimum specimen volume: 3 mL
  • Transport temperature: Room temperature
  • Specimen stability: Refrigerated (preferred)
  • Rejection criteria: Frozen specimens, clotted specimens, quantity not sufficient for analysis

What are the measure values for the test Pulmonary Alveolar Microlithiasis (PAM) Gene Analysis Test

  • Gene Mutation Analysis
  • Sequencing of Exons 1-34 of the SLC34A2 gene
  • Deletion/Duplication analysis of the SLC34A2 gene

What does this test Pulmonary Alveolar Microlithiasis (PAM) Gene Analysis Test identify?

  • Pulmonary Alveolar Microlithiasis (PAM) Gene Analysis Test: This test identifies mutations in the SLC34A2 gene, which are associated with Pulmonary Alveolar Microlithiasis (PAM). PAM is a rare genetic disorder characterized by the formation of small stones (microliths) in the alveoli of the lungs. Mutations in the SLC34A2 gene impair the function of a protein involved in phosphate transport, leading to the accumulation of microliths in the lungs. This test helps to confirm a diagnosis of PAM and guide treatment decisions.

Why is this test Pulmonary Alveolar Microlithiasis (PAM) Gene Analysis Test taken?

The Pulmonary Alveolar Microlithiasis (PAM) Gene Analysis Test is taken to diagnose a rare genetic disorder called Pulmonary Alveolar Microlithiasis. This test helps in identifying mutations in the SLC34A2 gene, which is responsible for encoding a protein involved in phosphate transport in the lungs. Mutations in this gene can lead to the accumulation of calcium phosphate crystals in the alveoli of the lungs, causing respiratory symptoms and potentially leading to progressive lung disease.

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